Strategies for prevention & treatment of genetic disorders (IC)

1. Epidemiology

2. causes

3. levels of treatment

3.1. avoiding harmful substances (diet)

3.2. replacement of end product

3.3. depletion of storage substrate

3.4. replacement of mutant protein

3.5. organ or bone marrow transplant

3.6. amplification of mutant proteins (gene therapy)

4. Ethical issues on medical genetics

4.1. principles

4.1.1. Beneficence

4.1.2. Respect for individual autonomy

4.1.3. Justice

4.2. Genetic testing

4.2.1. prenatal Dx for non disease traits

4.2.2. testing for genes that predispose to late onset disease

4.2.3. test children for a carrier state

4.3. privacy of genetic information

4.4. misuse of genetic information

4.5. genetic screening

5. basic prenatal genetic diagnostic strategies

5.1. screening

5.2. diagnosing